Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796179
Disease: Teebi syndrome
Teebi syndrome
0.710 Biomarker disease GENOMICS_ENGLAND We review the phenotypic findings in the previously-published Teebi hypertelorism syndrome patients, and the Opitz G/BBB patients with SPECC1L mutations. 26111080 2015
CUI: C0796179
Disease: Teebi syndrome
Teebi syndrome
0.710 GermlineCausalMutation disease ORPHANET We review the phenotypic findings in the previously-published Teebi hypertelorism syndrome patients, and the Opitz G/BBB patients with SPECC1L mutations. 26111080 2015
CUI: C0796179
Disease: Teebi syndrome
Teebi syndrome
0.710 GeneticVariation disease UNIPROT We review the phenotypic findings in the previously-published Teebi hypertelorism syndrome patients, and the Opitz G/BBB patients with SPECC1L mutations. 26111080 2015
CUI: C0796179
Disease: Teebi syndrome
Teebi syndrome
0.710 GeneticVariation disease BEFREE Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome. 26111080 2015
CUI: C0796179
Disease: Teebi syndrome
Teebi syndrome
0.710 CausalMutation disease CLINVAR
CUI: C0796179
Disease: Teebi syndrome
Teebi syndrome
0.710 GeneticVariation disease CLINVAR